Revolutionizing Spinal Muscular Atrophy Prevention in Serbia: Implementing a Mandatory Statewide Newborn Screening

Abstract

Spinal muscular atrophy (SMA) is the prevalent genetic cause of childhood mortality. Pioneering treatments yield utmost advantages only within the presymptomatic phase, underlining the medical and ethical significance of newborn screening. In 2022, the Centre for Human Molecular Genetics initiated a pilot study of the newborn screening for SMA, working closely alongside the University Children’s Hospital Tirsova and Association SMA Serbia. The aim was to lay the foundation for the implementation of statewide newborn screening for SMA in Serbia by conducting screening for ~8000 infants from the Obstetrics and Gynaecology Clinic Narodni Front over the course of a year. In the subsequent year, we expanded the initiative to include another maternity hospital located outside Belgrade, introducing sample shipment via postal services and extending screening accessibility to a greater number of infants. In the initial year, 6 950 newborns underwent testing, revealing SMA in two unrelated infants. Subsequently, an older sibling of the first newborn, although asymptomatic at the time, was also tested at the age of 16 months, and SMA diagnosis was confirmed in this child as well. All three children received therapeutic interventions in <1 month from birth. To date, they have exhibited no signs of SMA, and there have been no false negative outcomes among the newborns who tested negative during the screening. In the second year, an additional 5 000 newborns underwent testing. As frontrunners in this field in Serbia, we orchestrated harmonized efforts across various tiers of healthcare, established screening and diagnostic algorithms and follow-up protocols. Our extensive efforts were primarily aimed at elevating awareness among all stakeholders about the critical importance of early disease detection. In this transformative journey, we transitioned from being isolated individuals and visionaries who championed a singular idea to an entire community and nation that now acknowledges the paramount significance of newborn screening. As a result, a total of 11 950 infants underwent testing during the 17-month pilot project, culminating in the rapid incorporation of newborn screening for SMA into the national screening program, effective as of September 14th 2023. Timely detection and treatment can transform SMA into a manageable condition, and there is substantial evidence supporting its inclusion in state-wide screening programs.